The Menkes protein (ATP7A; MNK) cycles via the plasma membrane both in basal and elevated extracellular copper using a C-terminal di-leucine endocytic signal

Human Molecular Genetics

Volumn 8, Issue 11, 1999, Pages 2107-2115

  Petris, Michael J ^a,b   Mercer, Julian F B ^b  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b Ctr for Cell and Molecular Biology   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ANTIBODY; CELL SURFACE PROTEIN; CLATHRIN; COPPER; LEUCINE; MENKES PROTEIN; MYC PROTEIN; PROTEIN; TRANSFERRIN; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; CELL MEMBRANE; CELL NUCLEUS; CELL TRANSPORT; CONTROLLED STUDY; COPPER DEFICIENCY; ENDOSOME; EXOCYTOSIS; GENE MUTATION; GOLGI COMPLEX; HUMAN; MENKES SYNDROME; NONHUMAN; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; X CHROMOSOME LINKAGE;

ADENOSINE TRIPHOSPHATASES; ANIMALS; ANTIBODIES; CARRIER PROTEINS; CATION TRANSPORT PROTEINS; CELL MEMBRANE; CELLS, CULTURED; CHO CELLS; COLONY-FORMING UNITS ASSAY; COPPER; CRICETINAE; CRICETULUS; CULTURE MEDIA, SERUM-FREE; DRUG RESISTANCE; ENDOCYTOSIS; EPITOPES; EXOCYTOSIS; HUMANS; ION TRANSPORT; LEUCINE; MENKES KINKY HAIR SYNDROME; ORGANELLES; PROTEIN STRUCTURE, TERTIARY; PROTO-ONCOGENE PROTEINS C-MYC; RECOMBINANT FUSION PROTEINS; TRANSFECTION; TRANSFERRIN;

EID: 0032837679     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.11.2107     Document Type: Article

References (31)

1. Danks, D.M. (1995) Disorders of copper transport. In Scriver, C.R., Beaudet, A.L., Sly, W.M. and Valle, D. (eds), The Metabolic and Molecular Basis of Inherited Disease. McGraw-Hill, New York, NY, pp. 2211-2235.
2. Chelly, J., Turmer, Z., Tonneson, T., Petterson, A., Ishikawa-Brush, Y., Tommerup, N., Horn, N. and Monaco, A.P. (1993) Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nature Genet., 3, 14-19.
3. Mercer, J.F.B., Livingston, J., Hall, B., Paynter, J.A., Begy, C., Chandrasekharappa, S., Lockhart, P., Grimes, A., Bhave, M., Siemieniak, D. and Glover, T.W. (1993) Isolation of a partial candidate gene for Menkes disease by positional cloning. Nature Genet., 3, 20-25.
4. Vulpe, C., Levinson, B., Whitney, S., Packman, S. and Gitschier, J. (1993) Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nature Genet., 3, 7-13.
5. Herd, S.M., Camakaris, J., Christofferson, R., Wookey, P. and Danks, D.M. (1987) Uptake and efflux of copper-64 in Menkes'-disease and normal continuous lymphoid cell lines. Biochem. J., 247, 341-347.
6. Camakaris, J., Petris, M.J., Bailey, L., Shen, P., Lockhart, P., Glover, T.W., Barcroft, C.L., Patton, J. and Mercer, J.F.B. (1995) Gene amplification of the Menkes (MNK; ATP7A) P-type ATPase gene of CHO cells is associated with copper resistance and enhanced copper efflux. Hum. Mol. Genet., 4, 2117-2123.
7. La Fontaine, S., Firth, S.D., Lockhart, P.J., Brooks, H., Parton, R.G., Camakaris, J. and Mercer, J.F.B. (1998) Functional analysis and intracellular localization of the human Menkes protein (MNK) stably expressed from a cDNA construct in Chinese Hamster Ovary cells (CHO-K1) Hum. Mol. Genet., 7, 1293-1300.
8. Dierick, H.A., Adam, A.N., Escara-Wilke, J.F. and Glover, T.W. (1997) Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-Golgi network. Hum. Mol. Genet., 6, 409-416.
9. Petris, M.J., Mercer, J.F.B., Culvenor, J.G., Lockhart, P., Gleeson, P.A. and Camakaris, J. (1996) Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking. EMBO J., 15, 6084-6095.
10. Yamaguchi, Y., Heiny, M.E., Suzuki, M. and Gitlin, J.D. (1996) Biochemical characterization and intracellular localization of the Menkes disease protein. Proc. Natl. Acad. Sci. USA, 93, 14030-14035.
11. Ambrosini, L. and Mercer, J.F.B. (1999) Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease. Hum. Mol. Genet., 8, 1547-1555.
12. Solioz, M. and Vulpe, C. (1996) CPx-type ATPases: a class of P-type ATPases that pump heavy metals. Trends Biochem. Sci., 21, 237-241.
13. Petris, M.J., Camakaris, J., Greenough, M., La Fontaine, S. and Mercer, J.F.B. (1998) A C-terminal di-leucine is required for localization of the Menkes protein in the trans-Golgi network. Hum. Mol. Genet., 7, 2063-2071.
14. Wood, S.A., Park, J.E. and Brown, W.J. (1991) Brefeldin A causes a microtubule-mediated fusion of the trans-Golgi network and early endosomes. Cell, 67, 591-600.
15. Ladinsky, M.S. and Howel, K.E. (1992) The trans-Golgi network can be dissected structurally and functionally from the cisternae of the Golgi complex by brefeldin A. Eur. J. Cell Biol., 59, 92-105.
16. Strausak, D., La Fontaine, S., Hill, J., Firth, S.D., Lockhart, P.J. and Mercer, J.F.B. (1999) The role of GMxCxxC metal binding sites in the copper-induced redistribution of the Menkes protein (MNK or ATP7A). J Biol. Chem., 274, 11170-11177.
17. Corvera, S., Chawla, A., Chakrabarti, R., Joly, M., Buxton, J. and Czech, M.P. (1994) A double leucine within the GLUT4 glucose transporter COOH-terminal domain functions as an endocytosis signal. J. Cell. Biol., 126, 979-989.
18. Bos, K., Wraight, C. and Stanley, K.K. (1993) TGN38 is maintained in the trans-Golgi network by a tyrosine-containing motif in the cytoplasmic domain. EMBO J., 12, 2219-2228.
19. Takahashi, S., Nakagawa, T., Banno, T., Watanabe, T., Murakami, K. and Nakayama, K. (1995) Localization of furin to the trans-Golgi network and recycling from the cell surface involves Ser and Tyr residues within the cytoplasmic domain. J. Biol. Chem., 270, 28397-28401.
20. Trowbridge, I.S., Collawn, J.F. and Hopkins, C.R. (1993) Signal-dependent membrane protein trafficking in the endocytic pathway. Annu. Rev. Cell. Biol., 9, 129-161.
21. Marks, M.S., Ohno, H., Kirchhausen, T. and Bonifacino, J.S. (1997) Protein sorting by tyrosine-based signals: adapting to the Ys and wherefores. Trends Cell. Biol., 7, 124-128.
22. Gruenberg, J. and Maxfield, F.R. (1995) Membrane transport in the endocytic pathway. Curr. Opin. Cell. Biol., 7, 552-563.
23. Wei, M.L., Bonzelius, F., Scully, R.M., Kelly, R.B. and Herman, G.A. (1998) GLUT4 and transferrin receptor are differentially sorted along the endocytic pathway in CHO cells. J. Cell. Biol., 140, 565-575.
24. Francis, M.J., Jones, E.E., Levy, E.R., Ponnambalam, S., Chelly, J. and Monaco, A.P. (1998) A Golgi localization signal identified in the Menkes recombinant protein. Hum. Mol. Genet., 7, 1245-1252.
25. Qi, M. and Byers, P.M. (1998) Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the Menkes protein and produces the occipital horn syndrome. Hum. Mol. Genet., 7, 465-469.
26. Francis, M.J., Jones, E.E., Levy, E.R., Martin, R.L., Ponnambalam, S. and Monaco, A.P. (1999) Identification of a di-leucine motif within the C terminus domain of the Menkes disease protein that mediates endocytosis from the plasma membrane. J. Cell Sci., 112, 1721-1732.
27. Reaves, B.J., Banting, G. and Luzio, J.P. (1998) Lumenal and transmembrane domains play a role in sorting type I membrane proteins on endocylic pathways. Mol. Biol. Cell., 9, 1107-1122.
28. Hung, I.H., Suzuki, M., Yamaguchi, Y., Yuan, D.S., Klausner, R.D. and Gitlin, J.D. (1997) Biochemical characterization of the Wilson disease protein and functional expression in the yeast Saccharomyces cerevisiae. J. Biol. Chem., 272, 21461-21466.
29. br) mouse mutants. Hum. Mol. Genet., 8, 1069-1075.
30. La Fontaine, S., Firth, S.D., Lockhart, P.J., Paynter, J.A. and Mercer, J.F.B. (1998) Low copy number plasmid vectors for eukaryotic gene expression: transient expression of the Menkes protein. Plasmid, 39, 245-251.
31. Sambrook, J., Fritsch, E.F. and Maniatis, T. (1989) Molecular Cloning. A Laboratory Manual. 2nd Edn. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY.